ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135591 SCV003808677 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2019-01-31 criteria provided, single submitter clinical testing
GeneDx RCV004801316 SCV005421681 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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